1999-11-15-17 Asphyxiating thoracic dysplasia © Jeanty www.thefetus.net/
Asphyxiating thoracic dysplasia
Philippe Jeanty, MD, PhD & Sandra R Silva, MD
Definition: Autosomal recessive chondrodysplasia characterized by a small thorax, varying degrees of rhizomelic brachymelia, polydactyly, pelvic abnormalities, and renal anomalies.
Synonyms: Jeune syndrome
Incidence: Unknown, usually affecting Caucasians babies.
Pathogenesis & Etiology: Autosomal recessive disorder.
Diagnosis: The most striking ultrasound finding is a very narrow chest (fig. 1) with short limbs,,,,. The limbs however, are not as short as those of other lethal conditions such as thanatophoric dysplasia, achondrogenesis, OI type 2, and the short-rib polydactyly syndromes... The increase iliac wing angle, reported in the radiographic literature has not been reported yet with ultrasound. Pancreatic cysts have been recognized in one case.
Figure 1: Longitudinal view of the chest and abdomen of a fetus with Asphyxiating thoracic dysplasia. Note the constriction of the chest. (Reprinted with permission from Dr. Roberto Romero Chief Perinatology Wayne State University).
Genetic anomalies: Defect probably located on the short arm of chromosome 12.
Differential diagnosis: Ellis van Crevelt syndrome (Short arm of chromosome 4) that presents mainly with cardiac anomalies instead of renal anomalies.
Prognosis: In spite of the dreadful name not all newborn are asphyxiated, and with corrective surgery of the chest some patient have had a fairly normal outcome
Management: Termination of pregnancy can be offered before viability. Standard prenatal care is not altered when continuation the pregnancy is opted for. Confirmation of diagnosis after birth is important for genetic counseling.
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